Alpha-1 Antitrypsin Deficiency also known as A1AD or AAT Deficiency is a genetic disorder. Laurell and Erickson in Sweden reported the first patients with the condition in 1963. Since their discovery much has been learned about the history if A1AD (Liebrman, 2002).
The name of the disease comes from a deficiency of the serum antiprotease. This enzyme is a protein that protects the lungs from germs, dust, pollution, smoke and other inhaled chemicals. This enzyme deficiency is present at birth. In order to identify if a person has the deficiency, their blood need to be drawn for alpha-1 antitrypsin levels. Patients with a known history of A1AD and patients with repeated respiratory symptoms such as dyspena, which …show more content…
At first, the symptoms are usually intermittent. Because of the wheezing, patients are told they have asthma. People may also show signs of liver symptoms. This would include them being jaundice, which would produce a yellow color to their skin and eyes. They may also have ascites, accumulation of fluid in the peritoneal cavity, or a collection of fluid in the abdominal area. They may cough up blood, have itching, have poor appetite and notice they are always tired and have no …show more content…
They need to make sure they get their yearly pneumonia and flu vaccines. They need to be taught breathing exercises and be involved in a regular exercise program. People with severe signs of developing emphysema can be treated with Prolastin. Prolastin and is a pool, purified, human plasma protein concentrate replacement for the missing enzyme. They will need weekly infusions of Prolastin through their veins. This Prolastin will restore the enzyme to a higher level. There is no proof and evidence that infusion of Prolastin improves survival rate or slows down the